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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...
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Related Experiment Video

Updated: May 28, 2026

T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing
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T and B Cell Receptor Immune Repertoire Analysis using Next-generation Sequencing

Published on: January 12, 2021

Array-based sequence capture and next-generation sequencing for the identification of primary immunodeficiencies.

S Ghosh1, F Krux, V Binder

  • 1Department of Pediatric Oncology, Hematology and Clinical Immunology, University Hospital Düsseldorf, Düsseldorf, Germany.

Scandinavian Journal of Immunology
|October 25, 2011
PubMed
Summary
This summary is machine-generated.

This study developed a custom microarray for genetic testing in primary immunodeficiencies. The array successfully identified genetic defects in two patients, advancing diagnostic capabilities for these complex immune disorders.

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Published on: December 28, 2015

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Primary immunodeficiencies (PIDs) are genetic disorders affecting immune system components.
  • Next-generation sequencing (NGS) offers promise for diagnosing PIDs with complex genetic backgrounds.

Purpose of the Study:

  • To design and evaluate a custom microarray for targeted gene capture and sequencing in primary immunodeficiency.
  • To identify genetic defects in patients with suspected PIDs using array-based sequence capture.

Main Methods:

  • A custom 385K probe microarray was designed to capture exons of 395 genes associated with PIDs.
  • Enriched DNA was sequenced using the GS FLX Titanium 454 platform.
  • Sequence analysis was performed on patients and their parents.

Main Results:

  • The custom array successfully identified the ATM gene defect in a patient with hepatosplenomegaly and recurrent infections.
  • A mutation in the ARTEMIS gene was detected in a child with a severe combined immunodeficiency (SCID) phenotype.
  • High-quality sequencing reads were achieved, with substantial coverage of targeted nucleotides.

Conclusions:

  • Array-based sequence capture is an efficient method for sequencing large targeted DNA regions.
  • This approach can identify underlying genetic defects in patients with suspected primary immunodeficiency.
  • Whole-exome sequencing holds future potential, but bioinformatic challenges remain.